Canonical Allele Identifier: CA479918443

Gene: AAAS

Linked Data

• dbSNP Id: rs1944337279
• gnomAD v3: 12-53308780-C-G
• gnomAD v4: 12-53308780-C-G
• MyVariant Identifiers: chr12:g.53702564C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308780C>G , CM000674.2:g.53308780C>G	GRCh38
NC_000012.11:g.53702564C>G , CM000674.1:g.53702564C>G	GRCh37
NC_000012.10:g.51988831C>G	NCBI36
NG_016775.1:g.17849G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1032G>C MANE Select	ENSP00000209873.4:p.Leu344=
ENST00000546393.7:n.1877G>C
ENST00000546562.6:n.2096G>C
ENST00000547238.6:n.1668G>C
ENST00000547520.6:n.1026G>C
ENST00000547757.2:c.81G>C	ENSP00000448020.2:p.Leu27=
ENST00000548880.2:n.1482G>C
ENST00000548931.6:c.552G>C	ENSP00000457518.1:p.Leu184=
ENST00000549450.6:n.966G>C
ENST00000552161.6:n.1988G>C
ENST00000672797.1:n.1521G>C
ENST00000672900.1:n.1974G>C
ENST00000209873.8:c.1032G>C	ENSP00000209873.4:p.Leu344=
ENST00000394384.7:c.933G>C	ENSP00000377908.3:p.Leu311=
ENST00000547520.5:n.736G>C
ENST00000548931.5:c.552G>C	ENSP00000457518.1:p.Leu184=
ENST00000550033.5:n.287G>C
ENST00000550286.5:c.660G>C	ENSP00000446885.1:p.Leu220=
ENST00000552876.5:n.1375G>C
NM_001173466.1:c.933G>C	NP_001166937.1:p.Leu311=
NM_015665.5:c.1032G>C	NP_056480.1:p.Leu344=
XM_006719617.2:c.1047G>C	XP_006719680.1:p.Leu349=
XM_006719619.2:c.*42G>C	XP_006719682.1:n.*42G>C
XM_011538777.1:c.1047G>C	XP_011537079.1:p.Leu349=
XM_011538778.1:c.1032G>C	XP_011537080.1:p.Leu344=
XM_011538779.1:c.948G>C	XP_011537081.1:p.Leu316=
XM_011538780.1:c.933G>C	XP_011537082.1:p.Leu311=
XM_011538781.1:c.381G>C	XP_011537083.1:p.Leu127=
XM_011538778.2:c.1032G>C	XP_011537080.1:p.Leu344=
XM_011538780.2:c.933G>C	XP_011537082.1:p.Leu311=
XR_001748875.2:n.1089G>C
NM_015665.6:c.1032G>C MANE Select	NP_056480.1:p.Leu344=
NM_001173466.2:c.933G>C	NP_001166937.1:p.Leu311=